Abstract |
Bilateral segmental neurofibromatosis is a rare condition characterized by the occurrence of neurofibromas and/or café-au-lait spots limited to an area or segment of the body bilaterally. It is caused by a postzygotic mutation in the neurofibromatosis type I gene, resulting in a phenotype of genetic mosaicism. This report describes a case of bilateral segmental neurofibromatosis with multiple nodules sitting on a café-au-lait spot.
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Authors | Gabriel Gonzalez, Maria Eugenia Russi, Amelia Lodeiros |
Journal | Pediatric neurology
(Pediatr Neurol)
Vol. 36
Issue 1
Pg. 51-3
(Jan 2007)
ISSN: 0887-8994 [Print] United States |
PMID | 17162198
(Publication Type: Case Reports, Journal Article, Review)
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Topics |
- Cafe-au-Lait Spots
(genetics, pathology)
- Child
- Genes, Neurofibromatosis 1
- Humans
- Male
- Mosaicism
- Neurofibromatosis 1
(genetics, pathology)
- Phenotype
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